MFS
MCID: MRF001
MIFTS: 78

Marfan Syndrome (MFS) malady

Eye, Cardiovascular, Bone, Fetal, Nephrological categories

Summaries for Marfan Syndrome

Sources:
43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MedlinePlus:34 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Marfan Syndrome, also known as marfan's syndrome, is related to aortic aneurysm and aortic disease, and has symptoms including flat cheek bones/malar hypoplasia, pectus excavatum and scoliosis. An important gene associated with Marfan Syndrome is FBN1 (fibrillin 1), and among its related pathways are Endometrial cancer and Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer. The compounds procollagen and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lung, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

NIH Rare Diseases:43 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). last updated: 2/25/2011

Genetics Home Reference:21 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

Wikipedia:64 Marfan syndrome (also called Marfan\'s syndrome) is a genetic disorder of the connective tissue. People... more...

Description from OMIM:47 154700,610380

GeneReviews summary for marfan

Aliases & Classifications for Marfan Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Cardiovascular, Bone, Nephrological


Characteristics (Orphanet epidemiological data):

49
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age
marfan syndrome type 1:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

marfan syndrome 8 9 64 19 43 21 47 10 45 49 34 61
marfan's syndrome 8 20 22 21
arachnodactyly 64 45 61
mfs 64 21 49
marfan syndrome type 1 43 49
branched-chain ketoacid dehydrogenase deficiency 19
marfanoid hypermobility syndrome 61
branched-chain ketoaciduria 19
contractural arachnodactyly 43
maple syrup urine disease 61
maple syrup disease 19
bckd deficiency 19
mfs1 49
msud 19


External Ids:

Disease Ontology8 DOID:14323
MeSH35 D008382
NCIt40 C34807
ICD9CM27 759.82
MESH via Orphanet36 D008382
ICD10 via Orphanet26 Q87.4
SNOMED-CT via Orphanet58 19346006
UMLS via Orphanet62 C0024796
ICD1025 Q87.4

Related Diseases for Marfan Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 398)
idRelated DiseaseScoreTop Affiliating Genes
1aortic aneurysm31.1FBN1, TGFBR2, TGFBR1
2aortic disease30.7FBN1
3thoracic aortic aneurysm30.6FBN1, ELN, TGFBR2
4congenital contractural arachnodactyly30.6FBN2
5mitral valve prolapse30.5FBN1, FBN2, AGTR1
6loeys-dietz syndrome30.5COL3A1, FBN1, TGFBR2, TGFBR1
7dissecting aortic aneurysm30.4ELN
8polycystic kidney disease30.2PKD1
9lens subluxation30.2FBN1
10vascular disease30.1CBS, ELN
11pseudoxanthoma elasticum30.1FBN1, ELN
12cutis laxa30.0LOX, BMP6, FBN1, ELN
13arteriosclerosis29.9ELN
14aortic valve stenosis29.9ELN
15homocystinuria29.9CBS, FBN1
16acute myocardial infarction29.9CBS, AGTR1
17osteogenesis imperfecta29.9COL1A2, COL3A1, DCN, CD36
18abdominal aortic aneurysm29.9FBN1, DCN, MMP14, ELN
19hyperhomocysteinemia29.9F9, FBN1, CBS, ELN
20focal segmental glomerulosclerosis29.9COL1A2, BMP6, DCN, AGTR1, CD36
21coronary artery disease,29.9COL3A1, F9, FBN1, AGTR1, CBS
22aneurysm disease29.9LOX, COL3A1, FBN1, FBN2, PKD1, MMP14
23atherosclerosis29.9LOX, BMP6, FBN1, DCN, AGTR1, CBS
24mental retardation29.7TGFBR2, ELN, CBS, FBN1
25brain disease11.0
26phenylketonuria10.9
27n syndrome10.9
28marfanoid hypermobility syndrome10.8
29neonatal marfan syndrome10.8
30lip disease10.8
31hypermobility syndrome10.7
32adult syndrome10.7
33nutrition disease10.7
34maple syrup urine disease type 310.6
35char syndrome10.5
36acrodermatitis10.5
37congenital hypothyroidism10.5
38hypoglycemia10.5
39acrodermatitis enteropathica10.5
40enteropathica10.5
41brain injury10.5
42maple syrup urine disease type 210.5
43micro syndrome10.5
44young syndrome10.4
45mycosis fungoides10.4
46maple syrup urine disease10.4
47corneal disease10.4
48axonal neuropathy10.4
49status epilepticus10.4
50lesch-nyhan syndrome10.4

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Clinical Features for Marfan Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

154700,610380

Clinical synopsis from OMIM:

154700

Symptoms:

49 (show all 48)
  • flat cheek bones/malar hypoplasia
  • pectus excavatum
  • scoliosis
  • sleep and vigilance disorders
  • kyphosis
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • hypotonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • dental malocclusion
  • inguinal/inguinoscrotal/crural hernia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • flat foot
  • restricted joint mobility/joint stiffness/ankylosis
  • visual loss/blindness/amblyopia
  • asthenia/fatigue/weakness
  • articular/joint pain/arthralgia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • heart/cardiac failure
  • hyperextensible joints/articular hyperlaxity
  • dolichocephaly/scaphocephaly
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • thoracic/chest pain
  • myalgia/muscular pain
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • hyperactivity/attention deficit
  • aortic dissection
  • myopia
  • endocardium anomalies/fibroelastosis/endocarditis
  • glaucoma
  • retinal detachment
  • narrow face
  • long limbs/dolichostenomelia
  • long hand/arachnodactyly
  • striae
  • aortic root dilatation/dilation/aneurysm
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • coxa profunda/acetabular protrusion
  • arterial aneurism (excluding aorta)
  • dural ectasia/
  • flat cornea
  • lens dislocation/luxation/subluxation/ectopia lentis
  • arterial rupture
  • meningocele
  • sprain/twisted joint

Drugs & Therapeutics for Marfan Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Marfan Syndrome

Drug clinical trials:

Search ClinicalTrials for Marfan Syndrome

Search NIH Clinical Center for Marfan Syndrome

Search CenterWatch for Marfan Syndrome

Genetic Tests for Marfan Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome20 FBN1
2 Marfan's Syndrome22

Anatomical Context for Marfan Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Marfan Syndrome:

33
Skin, Kidney, Lung, Spleen, Heart, Smooth muscle, Skeletal muscle, Small intestine, Colon, Thyroid, Placenta, T cells, B cells, Endothelial, Fetal lung, Fetal thyroid

Animal Models for Marfan Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Marfan Syndrome:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.8COL1A2, FBN2, DCHS1, PKD1, CBS, NOV
2MP:00053799.8CBS, DCN, FBN1
3MP:00053759.7FBN1, PKD1, CD36, MMP14, NOV, TGFBR2
4MP:00053829.7FBN1, DCN, PKD1, CBS, MMP14, NOV
5MP:00107719.7LOX, COL3A1, FBN1, DCN, PKD1, CBS
6MP:00053709.6COL3A1, F9, PKD1, CBS, CD36, NOV
7MP:00053809.5DCHS1, PKD1, CBS, MMP14, TGFBR2, TGFBR1
8MP:00053889.4DCHS1, FBN2, COL3A1, LOX, DCN, PKD1
9MP:00053679.4FBN1, DCHS1, DCN, AGTR1, PKD1, CBS
10MP:00053699.4LOX, COL1A2, COL3A1, FBN1, FBN2, DCN
11MP:00053819.3COL3A1, DCHS1, DCN, PKD1, CD36, MMP14
12MP:00053869.3FBN2, FBN1, COL1A2, LOX, DCN, CBS
13MP:00053979.3F9, FBN1, DCN, PKD1, CBS, CD36
14MP:00053849.2DCN, FBN2, FBN1, COL1A2, PKD1, CBS
15MP:00053879.2F9, FBN1, DCN, AGTR1, PKD1, CBS
16MP:00053909.1COL1A2, BMP6, FBN1, FBN2, DCHS1, DCN
17MP:00053768.8AGTR1, DCN, FBN1, F9, COL3A1, LOX
18MP:00053858.7TGFBR1, LOX, COL1A2, F9, FBN1, FBN2
19MP:00053788.6DCHS1, FBN2, FBN1, BMP6, COL3A1, COL1A2
20MP:00107688.4DCHS1, FBN2, FBN1, F9, COL3A1, COL1A2

Publications for Marfan Syndrome

Sources:
51PubMed
See all sources

Articles related to Marfan Syndrome:

(show top 50)    (show all 832)
idTitleAuthorsYear
1
Epidemiological profile of marfan syndrome in a general population: a national database study. (24388020)
2014
2
Emergency Cesarean Section Due to Acute Aortic Dissection Type A (Debakey I) without Marfan Syndrome: A Case Report and Review of the Literature. (24011627)
2014
3
Endovascular treatment for type B dissection in Marfan syndrome: is it worthwhile? (23273625)
2013
4
Application of CRT-D in a Marfan syndrome patient with chronic heart failure accompanied by ventricular tachycardia and ventricular fibrillation. (23897797)
2013
5
Three pregnancies in a Marfan syndrome patient after a mitral and tricuspid valve surgery. (23700867)
2013
6
Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition. (23930893)
2013
7
Targeting transforming growth factor-I^ signaling in aortopathies in Marfan syndrome. (23412757)
2013
8
Extended aortic repair using frozen elephant trunk technique for Marfan syndrome with acute aortic dissection. (23196664)
2013
9
Aortic valve-sparing surgery in Marfan syndrome. (24079066)
2013
10
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene. (22260333)
2012
11
Assessment of bone mineral status in children with Marfan syndrome. (22887731)
2012
12
Can early aortic root surgery prevent further aortic dissection in Marfan syndrome? (22159238)
2012
13
The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome. (22789886)
2012
14
Fatal case of brucellosis misdiagnosed in early stages of Brucella suis infection in a 46-year-old patient with Marfan syndrome. (22495564)
2012
15
Uncertainty management and communication preferences related to genetic relativism among families affected by down syndrome, Marfan syndrome, and neurofibromatosis. (22168461)
2012
16
Surgical treatment of scoliosis associated with Marfan syndrome by using posterior-only instrumentation. (21088623)
2011
17
Repeat Operation for Pseudoaneurysm of Left Ventricular Outflow in a Patient with Concomitant Takayasu's Arteritis and Marfan Syndrome. (23555475)
2011
18
A huge noncoronary sinus of Valsalva aneurysm in a patient with Marfan syndrome. (21532308)
2011
19
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. (21834033)
2011
20
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. (21647416)
2011
21
Aortic root surgery in Marfan syndrome: Bentall procedure with the composite mechanical valved conduit versus aortic valve reimplantation with Valsalva graft. (20150820)
2010
22
Acute aortic dissection mimics acute inferoposterior wall myocardial infarction in a Marfan syndrome patient. (22389656)
2010
23
Minimally invasive cardiac surgery for a young woman with Marfan syndrome and mitral regurgitation. (20941568)
2010
24
Immediate effects of submaximal effort on pulse wave velocity in patients with Marfan syndrome. (20445953)
2010
25
May TGFBR1 act also as low penetrance allele in Marfan syndrome? (17936924)
2009
26
Proximal aortic perforation after endovascular repair of a type B dissection in a patient with Marfan syndrome. (19446984)
2009
27
A method for morphological characterization of dural ectasia in Marfan syndrome. (19963654)
2009
28
Three-dimensional analysis of the vertebral rotation associated with the lateral deviation in Marfan syndrome spinal deformity. (19436247)
2009
29
Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. (19001001)
2009
30
Fatal aortic dissection in a patient with a family history of Marfan syndrome. (18669769)
2008
31
Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). (17984934)
2007
32
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
33
Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. (15670230)
2005
34
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. (15546004)
2004
35
Hemopneumothorax associated with Marfan syndrome and congenital afibrinogenemia. (12683581)
2003
36
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. (12130535)
2002
37
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome. (10686496)
2000
38
The genetic basis of aortic disease. Marfan syndrome and beyond. (10589339)
1999
39
Potential therapy paradigms for Marfan syndrome. (15992100)
1999
40
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. (10189088)
1999
41
Hemifacial spasm associated with Marfan's syndrome: a case report. (9795950)
1998
42
Renovascular hypertension in Marfan syndrome. (9260256)
1997
43
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. (7951214)
1994
44
Coexistence of fibromuscular dysplasia and cystic medial necrosis in a patient with Marfan's syndrome and bilateral carotid artery dissections. (7974595)
1994
45
Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders. (8180508)
1994
46
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. (8111384)
1993
47
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. (8267926)
1993
48
A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. (1978725)
1990
49
Congenital contractural arachnodactyly. A heritable disorder of connective tissue distinct from Marfan syndrome. (4759368)
1973
50
MARFAN'S SYNDROME AND SUBACUTE BACTERIAL ENDOCARDITIS. (14248270)
1965

Genetic Variations for Marfan Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Marfan Syndrome:

63 (show all 224)
id Symbol AA change Variation SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Asn1131TyrVAR_002313rs137854473
36FBN1p.Arg1137ProVAR_002314rs137854456
37FBN1p.Cys1153TyrVAR_002316rs140599
38FBN1p.Asp1155AsnVAR_002317
39FBN1p.Arg1170HisVAR_002318rs137854475
40FBN1p.Cys1171TrpVAR_002319
41FBN1p.Asn1173LysVAR_002320
42FBN1p.Cys1223TyrVAR_002321rs137854469
43FBN1p.Cys1242TyrVAR_002322rs137854471
44FBN1p.Cys1249SerVAR_002323rs137854458
45FBN1p.Asn1382SerVAR_002324
46FBN1p.Asp1404TyrVAR_002325
47FBN1p.Cys1513ArgVAR_002326
48FBN1p.Cys1589PheVAR_002327
49FBN1p.Cys1610GlyVAR_002328
50FBN1p.Cys1663ArgVAR_002329rs137854459
51FBN1p.Pro1837SerVAR_002330
52FBN1p.Asn1893LysVAR_002331
53FBN1p.Cys1928ArgVAR_002332
54FBN1p.Cys2099TrpVAR_002333
55FBN1p.Cys2111TyrVAR_002334
56FBN1p.Asp2127GluVAR_002335
57FBN1p.Asn2144SerVAR_002336rs137854461
58FBN1p.Cys2151TrpVAR_002337
59FBN1p.Cys2221SerVAR_002338rs137854460
60FBN1p.Cys2258ArgVAR_002339
61FBN1p.Arg2282TrpVAR_002340
62FBN1p.Cys2307SerVAR_002341rs137854457
63FBN1p.Cys2489ArgVAR_002343
64FBN1p.Cys2511ArgVAR_002344
65FBN1p.His2623ProVAR_002345
66FBN1p.Gly2627ArgVAR_002346
67FBN1p.Arg2680CysVAR_002347
68FBN1p.Arg2726TrpVAR_002348rs61746008
69FBN1p.Cys504PheVAR_010776
70FBN1p.Cys1129TyrVAR_010777rs137854482
71FBN1p.Tyr1261CysVAR_010778
72FBN1p.Cys1833SerVAR_010779
73FBN1p.Cys2142TyrVAR_010780
74FBN1p.Arg62CysVAR_017967rs25403
75FBN1p.Cys89PheVAR_017968rs112660651
76FBN1p.Arg114CysVAR_017969
77FBN1p.Cys154SerVAR_017971
78FBN1p.Arg240CysVAR_017972rs137854480
79FBN1p.Trp366CysVAR_017973
80FBN1p.Gly560SerVAR_017974
81FBN1p.Cys570TyrVAR_017975
82FBN1p.Gly592AspVAR_017976
83FBN1p.Cys596TyrVAR_017977
84FBN1p.Cys598TrpVAR_017978
85FBN1p.Cys652SerVAR_017979
86FBN1p.Asp654AsnVAR_017980
87FBN1p.Ser681TyrVAR_017982
88FBN1p.Cys683ArgVAR_017983
89FBN1p.Cys685TrpVAR_017984rs140603
90FBN1p.Asp723ValVAR_017985
91FBN1p.Cys734PheVAR_017986
92FBN1p.Cys748TyrVAR_017987
93FBN1p.Cys776GlyVAR_017988
94FBN1p.Cys776TyrVAR_017989
95FBN1p.Cys781ArgVAR_017990
96FBN1p.Cys816SerVAR_017991
97FBN1p.Cys890ArgVAR_017992
98FBN1p.Cys908ArgVAR_017993
99FBN1p.Glu913GlyVAR_017994
100FBN1p.Cys921GlyVAR_017995
101FBN1p.Gly985ArgVAR_017996
102FBN1p.Cys1044TyrVAR_017997
103FBN1p.Cys1055TrpVAR_017998
104FBN1p.Cys1055TyrVAR_017999
105FBN1p.Tyr1101CysVAR_018000
106FBN1p.Glu1200GlyVAR_018002
107FBN1p.Glu1325GlnVAR_018003
108FBN1p.Ala1337ProVAR_018004
109FBN1p.Cys1339TyrVAR_018005
110FBN1p.Glu1366LysVAR_018006
111FBN1p.Cys1374SerVAR_018007
112FBN1p.Cys1389ArgVAR_018008
113FBN1p.Pro1424AlaVAR_018010
114FBN1p.Cys1429SerVAR_018011
115FBN1p.Cys1564TyrVAR_018013
116FBN1p.Cys1770PheVAR_018015
117FBN1p.Arg1790ProVAR_018016
118FBN1p.Cys1791TyrVAR_018017
119FBN1p.Cys1793TrpVAR_018018
120FBN1p.Gly1796GluVAR_018019
121FBN1p.Cys1806SerVAR_018020
122FBN1p.Cys1835TyrVAR_018021rs111929350
123FBN1p.Ile1909ThrVAR_018022
124FBN1p.Arg1915SerVAR_018023
125FBN1p.Cys1971TyrVAR_018025
126FBN1p.Cys1977TyrVAR_018026
127FBN1p.Cys1998TyrVAR_018027
128FBN1p.Cys2111ArgVAR_018029rs363815
129FBN1p.Cys2221GlyVAR_018031
130FBN1p.Asn2223HisVAR_018032
131FBN1p.Ile2269ThrVAR_018033
132FBN1p.Arg2335TrpVAR_018034
133FBN1p.Cys2406TyrVAR_018036
134FBN1p.Cys2442TrpVAR_018037
135FBN1p.Tyr2474CysVAR_018038
136FBN1p.Cys2581PheVAR_018039
137FBN1p.Ile2585ThrVAR_018040
138FBN1p.Gly2618ArgVAR_018041rs141133182
139FBN1p.Asn2624LysVAR_018042
140FBN1p.Cys2652GlyVAR_018043
141FBN1p.Gly2668CysVAR_018044
142FBN1p.Gly985GluVAR_018319rs137854477
143FBN1p.Cys1265ArgVAR_018320rs137854474
144FBN1p.Tyr20CysVAR_023859
145FBN1p.Cys123TyrVAR_023860
146FBN1p.Cys177ArgVAR_023861rs363853
147FBN1p.Cys224ArgVAR_023862
148FBN1p.Arg439GlyVAR_023863
149FBN1p.Cys541TyrVAR_023865
150FBN1p.Cys628LysVAR_023866
151FBN1p.Tyr635CysVAR_023868
152FBN1p.Arg636IleVAR_023869
153FBN1p.Cys781TyrVAR_023870
154FBN1p.Cys832TyrVAR_023871
155FBN1p.Cys890GlyVAR_023872
156FBN1p.Gly1058AspVAR_023873
157FBN1p.Asp1113ValVAR_023874
158FBN1p.Cys1153SerVAR_023875
159FBN1p.Tyr1219CysVAR_023877
160FBN1p.Tyr1261AspVAR_023878
161FBN1p.Cys1278SerVAR_023879
162FBN1p.Cys1284GlyVAR_023880
163FBN1p.Cys1333SerVAR_023881
164FBN1p.Cys1402ArgVAR_023882
165FBN1p.Pro1424SerVAR_023883
166FBN1p.Gly1475GluVAR_023884
167FBN1p.Gly1475SerVAR_023885
168FBN1p.Cys1564PheVAR_023886
169FBN1p.Met1576ThrVAR_023887
170FBN1p.Cys1631GlyVAR_023888
171FBN1p.Cys1663TyrVAR_023889
172FBN1p.Cys1791ArgVAR_023890
173FBN1p.Cys1806TyrVAR_023891
174FBN1p.Cys1876TyrVAR_023892rs112728248
175FBN1p.Thr1887IleVAR_023893
176FBN1p.Cys1895ArgVAR_023894
177FBN1p.Cys1900TyrVAR_023895
178FBN1p.Cys1928GlyVAR_023896
179FBN1p.Cys1928TyrVAR_023897
180FBN1p.Cys2038TyrVAR_023898rs363804
181FBN1p.Cys2085ArgVAR_023899
182FBN1p.Ala2160ProVAR_023900
183FBN1p.Cys2221PheVAR_023901
184FBN1p.Cys2251ArgVAR_023902rs112836174
185FBN1p.Ala2385ThrVAR_023903
186FBN1p.Cys2500ArgVAR_023904
187FBN1p.Cys2500TyrVAR_023905
188FBN1p.Cys2535TrpVAR_023906rs113544411
189FBN1p.Gly2536ArgVAR_023907
190FBN1p.Glu2570LysVAR_023908
191FBN1p.Cys2571ArgVAR_023909
192FBN1p.Cys2592SerVAR_023910
193FBN1p.Cys2605ArgVAR_023911
194FBN1p.Cys2605TyrVAR_023912
195FBN1p.Tyr2629CysVAR_023914
196FBN1p.Cys2663SerVAR_023915
197FBN1p.Cys1068GlyVAR_064503
198FBN1p.Cys80GlyVAR_065981
199FBN1p.Cys499TyrVAR_065982
200FBN1p.Cys611ArgVAR_065983
201FBN1p.Cys617GlyVAR_065984
202FBN1p.Cys685TyrVAR_065985
203FBN1p.Cys790TyrVAR_065986
204FBN1p.Cys811TyrVAR_065987
205FBN1p.Cys853SerVAR_065988
206FBN1p.Cys926TyrVAR_065989
207FBN1p.Pro1090SerVAR_065990
208FBN1p.Gly1185AspVAR_065991
209FBN1p.Cys1284TyrVAR_065992
210FBN1p.Cys1350PheVAR_065993
211FBN1p.Thr1401AlaVAR_065994
212FBN1p.Cys1431TrpVAR_065995rs112375043
213FBN1p.Cys1431TyrVAR_065996
214FBN1p.Asp1487AlaVAR_065998
215FBN1p.Asn1489LysVAR_065999
216FBN1p.Gly1838CysVAR_066000
217FBN1p.Cys1934SerVAR_066001
218FBN1p.Glu1976GlyVAR_066002
219FBN1p.Cys1984ArgVAR_066003
220FBN1p.Asp2166AsnVAR_066004
221FBN1p.Ile2185ThrVAR_066005
222FBN1p.Asp2247GlyVAR_066006
223FBN1p.Cys2442SerVAR_066008
224FBN1p.Cys2646ArgVAR_066010

Expression for genes affiliated with Marfan Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

Sources:
30KEGG, 54Reactome, 52QIAGEN, 60Tocris Bioscience, 38NCBI BioSystems Database, 56SinoBiological, 50PharmGKB, 12EMD Millipore
See all sources

Pathways related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.2TGFBR1, TGFBR2
2
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10.2TGFBR1, TGFBR2
3
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10.2TGFBR1, TGFBR2
4
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10.2TGFBR1, TGFBR2
5
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10.2TGFBR1, TGFBR2
610.2LOX, COL1A2
710.1DCN, TGFBR2, TGFBR1
8
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10.1ELN, TGFBR2, TGFBR1
910.1ELN, COL3A1, COL1A2
1010.1CD36, COL3A1, COL1A2
1110.1COL1A2, COL3A1, CD36
1210.1TGFBR1, TGFBR2, BMP6
13
Hide members
10.0COL1A2, COL3A1, MMP14
14
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10.0COL3A1, FBN1, DCN, CD36
159.9BMP6, DCN, TGFBR2, TGFBR1
16
Cell adhesion ECM remodeling
Hide members
9.9COL1A2, COL3A1, MMP14, ELN
17
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9.8COL1A2, COL3A1, FBN1, FBN2, CD36
18
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9.6LOX, MFAP5, FBN1, FBN2, FBLN2, ELN
19
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9.6COL1A2, COL3A1, BMP6, FBN1, FBN2, ELN
20
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9.4COL1A2, COL3A1, BMP6, FBN1, FBN2, ELN
21
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9.0MMP14, LOX, COL1A2, COL3A1, F9, MFAP5

Compounds for genes affiliated with Marfan Syndrome

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Marfan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1procollagen4510.8COL1A2
2cycloheximide4510.8ELN
3estrogen4510.6ELN, F9
4pentosidine4510.6LOX, ELN
5desmosine4510.5LOX, ELN, FBN1
6glutamate4510.5PKD1, AGTR1, FBN1
7matrigel4510.5LOX, TGFBR1, DCN
8cacl24510.4F9, FBN1, ELN
9cyanogen bromide4510.3COL1A2, F9, CD36, ELN
10keratan sulfate4510.3DCN, CD36, ELN
11glucose4510.3AGTR1, TGFBR1, TGFBR2, LOX
12h2o24510.3CD36, F9, ELN, LOX
13cyclosporin a45 29 6012.3COL3A1, DCN, TGFBR2, F9
14taad4510.3FBN1, TGFBR2
15bleomycin45 1111.2LOX, TGFBR2, ELN, DCN, BMP6
16silicone4510.2ELN, F9, CD36
17alginate4510.2MMP14, F9, ELN, CD36, DCN
18chondroitin sulfate45 2411.2BMP6, FBN1, DCN, ELN, CD36
19pyridinoline4510.2ELN, LOX, CD36
20dermatan sulfate4510.2BMP6, CD36, ELN, DCN, F9
21hyaluronic acid45 2411.2ELN, CD36, DCN, FBN1, BMP6
22glycosaminoglycan4510.1LOX, ELN, CD36, BMP6, DCN
23losartan45 50 29 1113.1AGTR1, BMP6, ELN, CD36
24hydroxyproline45 11 2412.1CD36, DCN, FBN1, BMP6, LOX, ELN
25chloramphenicol45 2 1112.1ELN, MMP14, DCN, COL1A2, F9
26deoxypyridinoline4510.1ELN, CD36, LOX
27sodium dodecylsulfate4510.0ELN, BMP6, DCN, FBN1
28paraffin4510.0ELN, DCN, LOX, CD36, MMP14, TGFBR1
29lysine4510.0AGTR1, ELN, DCN, LOX, F9, FBN1
30aspartate4510.0ELN, COL1A2, COL3A1, DCN, BMP6
31ly2940024510.0COL1A2, TGFBR2, TGFBR1, MMP14, CD36, BMP6
32genistein45 29 60 2 11 2415.0MMP14, ELN, TGFBR1, DCN, CD36, AGTR1
33ribonucleic acid459.9MMP14, TGFBR1, TGFBR2, COL3A1, DCN, BMP6
34dexamethasone45 50 29 1112.9DCN, MMP14, TGFBR2, TGFBR1, F9, LOX
35vitamin d459.9AGTR1, FBN1, BMP6, COL1A2, TGFBR2, CD36
36fibrinogen459.9FBLN2, AGTR1, CBS, MMP14, ELN, F9
37homocysteine45 2410.8CBS, FBN1, F9, LOX
38oligonucleotide459.8BMP6, DCN, CBS, MMP14, TGFBR2, TGFBR1
39thymidine45 2410.8BMP6, LOX, COL3A1, F9, COL1A2, MMP14
40creatinine459.8ELN, AGTR1, DCN, BMP6, CD36, F9
41retinoic acid45 2410.8CD36, ELN, LOX, TGFBR2, TGFBR1, DCN
42serine459.7MMP14, CBS, F9, ELN, PKD1, COL1A2
43tgf beta1459.7DCN, AGTR1, CD36, MMP14, ELN, TGFBR2
44tyrosine459.7TGFBR1, TGFBR2, PKD1, AGTR1, FBN1, F9
45heparin45 29 11 2412.6FBN1, DCN, CD36, NOV, ELN, TGFBR1
46vegf459.6DCN, LOX, TGFBR1, TGFBR2, ELN, MMP14
47hydrocortisone45 2 60 1112.6BMP6, F9, CD36, ELN
48alanine459.5DCN, BMP6, PKD1, MMP14, ELN, F9
49cysteine459.1DCN, ELN, TGFBR2, NOV, MMP14, CD36
50calcium45 50 11 2412.0CD36, TGFBR2, ELN, MMP14, FBN2, FBLN2

GO Terms for genes affiliated with Marfan Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Marfan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:07002210.2TGFBR1, TGFBR2
2microfibrilGO:00152710.1MFAP5, FBN1, FBN2
3Golgi lumenGO:00579610.0MMP14, DCN, F9
4proteinaceous extracellular matrixGO:0055789.8FBN1, FBN2, FBLN2, ELN
5extracellular matrixGO:0310129.6NOV, COL1A2, COL3A1, FBN1, FBLN2, DCN
6extracellular spaceGO:0056159.4LOX, COL1A2, COL3A1, BMP6, FBN1, DCN
7extracellular regionGO:0055769.1LOX, COL1A2, COL3A1, F9, MFAP5, FBN1

Biological processes related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:03558310.5FBN2, FBN1
2response to cholesterolGO:07072310.4TGFBR1, TGFBR2
3digestive tract developmentGO:04856510.4TGFBR2, PKD1, COL3A1
4positive regulation of reactive oxygen species metabolic processGO:200037910.3AGTR1, CD36, TGFBR2
5peptidyl-serine phosphorylationGO:01810510.3PKD1, TGFBR2, TGFBR1
6response to mechanical stimulusGO:00961210.3TGFBR2, MMP14, DCN
7collagen fibril organizationGO:03019910.3TGFBR1, COL3A1, COL1A2, LOX
8blood vessel developmentGO:00156810.3LOX, COL1A2, COL3A1, TGFBR2
9transforming growth factor beta receptor signaling pathwayGO:00717910.2COL1A2, COL3A1, TGFBR2, TGFBR1
10wound healingGO:04206010.2LOX, COL3A1, DCN, TGFBR2, TGFBR1
11cartilage developmentGO:05121610.2BMP6, PKD1, TGFBR2
12positive regulation of macrophage derived foam cell differentiationGO:01074410.2CD36, AGTR1
13heart developmentGO:00750710.1COL3A1, FBN1, PKD1, TGFBR2, TGFBR1
14collagen catabolic processGO:03057410.1MMP14, COL3A1, COL1A2
15skeletal system developmentGO:00150110.1TGFBR1, FBN1, BMP6, COL3A1, COL1A2
16kidney developmentGO:00182210.1BMP6, DCN, AGTR1, PKD1, TGFBR1
17extracellular matrix disassemblyGO:02261710.0COL1A2, COL3A1, MMP14
18extracellular fibril organizationGO:04320610.0MFAP5, COL3A1
19pathway-restricted SMAD protein phosphorylationGO:0603899.9TGFBR1, TGFBR2
20extracellular matrix organizationGO:0301989.4ELN, LOX, COL1A2, COL3A1, MFAP5, FBN1

Molecular functions related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00502410.2TGFBR1, TGFBR2
2transforming growth factor beta bindingGO:05043110.2TGFBR1, TGFBR2, CD36
3transmembrane receptor protein serine/threonine kinase activityGO:00467510.1TGFBR1, TGFBR2
4SMAD bindingGO:04633210.1COL1A2, COL3A1, TGFBR2, TGFBR1
5extracellular matrix bindingGO:05084010.1FBLN2, DCN, ELN
6platelet-derived growth factor bindingGO:0484079.9COL3A1, COL1A2
7extracellular matrix structural constituentGO:0052019.7ELN, FBLN2, FBN2, FBN1, MFAP5, COL3A1
8calcium ion bindingGO:0055099.5F9, FBN1, FBN2, FBLN2, DCHS1, MMP14

Products for genes affiliated with Marfan Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marfan Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet